Canonical Allele Identifier: CA2829343

Gene: DOK7

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.3493047C>T , CM000666.2:g.3493047C>T	GRCh38
NC_000004.11:g.3494774C>T , CM000666.1:g.3494774C>T	GRCh37
NC_000004.10:g.3464572C>T	NCBI36
NG_013072.2:g.34742C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_173660.5:c.1061C>T MANE Select	NP_775931.3:p.Ser354Phe
ENST00000340083.6:c.1061C>T MANE Select	ENSP00000344432.5:p.Ser354Phe
NM_001164673.1:c.*282C>T	NP_001158145.1:n.*282C>T
NM_001164673.2:c.*282C>T	NP_001158145.1:n.*282C>T
NM_001256896.1:c.131C>T	NP_001243825.1:p.Ser44Phe
NM_001256896.2:c.131C>T	NP_001243825.1:p.Ser44Phe
NM_001301071.1:c.1061C>T	NP_001288000.1:p.Ser354Phe
NM_001301071.2:c.1061C>T	NP_001288000.1:p.Ser354Phe
NM_001363811.1:c.629C>T	NP_001350740.1:p.Ser210Phe
NM_001363811.2:c.629C>T	NP_001350740.1:p.Ser210Phe
NM_173660.4:c.1061C>T	NP_775931.3:p.Ser354Phe
ENST00000340083.5:c.1061C>T	ENSP00000344432.5:p.Ser354Phe
ENST00000507039.5:c.*282C>T	ENSP00000423614.1:n.*282C>T
ENST00000512714.1:n.253C>T
ENST00000515886.5:n.829C>T
ENST00000643608.1:c.629C>T	ENSP00000495701.1:p.Ser210Phe
XM_011513435.1:c.1061C>T	XP_011511737.1:p.Ser354Phe
XM_011513435.2:c.1061C>T	XP_011511737.1:p.Ser354Phe
XM_011513436.1:c.1061C>T	XP_011511738.1:p.Ser354Phe
XM_011513437.1:c.647C>T	XP_011511739.1:p.Ser216Phe
XM_011513437.2:c.647C>T	XP_011511739.1:p.Ser216Phe